Clinical Applicability of Whole-Exome Sequencing Exemplified by a Study in Young Adults with the Advanced Cryptogenic Cholestatic Liver Diseases

Table 4

Variant characteristics, including global minor allele frequency (GMAF) in 1000 genomes project, European American minor allele frequency (EA MAF) in NHLBI exome sequencing project (ESP), and deleteriousness prediction according to SIFT and PolyPhen are provided.

Gene	Amino acid change	Rs	GMAF/EA MAF	SIFT/PolyPhen
ATP8B1	p.Asn45Thr	rs146599962	0.0016/0.0043	Tolerated_low_confidence/benign
ATP8B1	p.Ile349Thr	rs56214207	(−)/0.0002	Tolerated/benign
AKR1C1	p.Arg170His	rs139588200	0.0028/0.0083	Tolerated/benign
ABCC4	p.Lys304Asn	—	—	Deleterious/benign
RXRA	p.Pro22Leu	rs55836231	0.0004/0.0014	Tolerated_low_confidence/benign
CYP2C19	c.681G>A(p.=)	rs4244285	0.2214/0.1484	−/−
CYP2C9	p.Ile359Leu	rs1057910	0.0485/0.1094	Deleterious/possibly_damaging
NAT2	p.Arg197Gln	rs1799930	0.2650/−	Deleterious/possibly_damaging
NAT2	p.Ile114Thr	rs1801280	0.2927/0.3466	Deleterious/possibly_damaging